Aplasia of the proximal phalanges of the hand

Symptom Information:

Symptom ID: HPO:0010242
Synonyms:
Absent proximal phalanges [HPO:0010242]
Absent proximal phalanges (finger 2) [OMIM:Absent proximal phalanges (finger 2)]
Quality:
Cross references:
OMIM: "Absent proximal phalanges (finger 2)" [OMIM:Absent proximal phalanges (finger 2)]
Is a (Direct Parents):
HPO         Aplasia/Hypoplasia of the proximal phalanges of the hand
HPO         Aplasia of the fingers
HPO         Aplasia of the phalanges of the hand
Is a (Whole tree): HPO:
All(HPO:0000001)
    Phenotypic abnormality(HPO:0000118)
       Abnormality of the skeletal system(HPO:0000924)
          Abnormality of skeletal morphology(HPO:0011842)
             Aplasia/hypoplasia involving the skeleton(HPO:0009115)
                Aplasia/hypoplasia of the extremities(HPO:0009815)
                   Aplasia/hypoplasia involving bones of the upper limbs(HPO:0006496)
                      Aplasia/hypoplasia involving bones of the hand(HPO:0005927)
                         Aplasia/Hypoplasia of fingers(HPO:0006265)
                            Aplasia of the fingers(HPO:0009380)
                               Aplasia of the proximal phalanges of the hand(HPO:0010242)
             Abnormal appendicular skeleton morphology(HPO:0011844)
                Abnormality of limb bone morphology(HPO:0002813)
                   Abnormality of the upper limb(HPO:0002817)
                      Aplasia/hypoplasia involving bones of the upper limbs(HPO:0006496)
                         Aplasia/hypoplasia involving bones of the hand(HPO:0005927)
                            Aplasia/Hypoplasia of fingers(HPO:0006265)
                               Aplasia of the fingers(HPO:0009380)
                                  Aplasia of the proximal phalanges of the hand(HPO:0010242)
                      Abnormality of the hand(HPO:0001155)
                         Aplasia/hypoplasia involving bones of the hand(HPO:0005927)
                            Aplasia/Hypoplasia of fingers(HPO:0006265)
                               Aplasia of the fingers(HPO:0009380)
                                  Aplasia of the proximal phalanges of the hand(HPO:0010242)
                         Abnormality of finger(HPO:0001167)
                            Abnormality of phalanx of finger(HPO:0005918)
                               Abnormality of the proximal phalanges of the hand(HPO:0009834)
                                  Aplasia/Hypoplasia of the proximal phalanges of the hand(HPO:0009851)
                                     Aplasia of the proximal phalanges of the hand(HPO:0010242)
                               Aplasia/Hypoplasia of the phalanges of the hand(HPO:0009767)
                                  Aplasia of the phalanges of the hand(HPO:0009802)
                                     Aplasia of the proximal phalanges of the hand(HPO:0010242)
                                  Aplasia/Hypoplasia of the proximal phalanges of the hand(HPO:0009851)
                                     Aplasia of the proximal phalanges of the hand(HPO:0010242)
                            Aplasia/Hypoplasia of fingers(HPO:0006265)
                               Aplasia of the fingers(HPO:0009380)
                                  Aplasia of the proximal phalanges of the hand(HPO:0010242)
                   Abnormality of digit(HPO:0011297)
                      Abnormality of finger(HPO:0001167)
                         Abnormality of phalanx of finger(HPO:0005918)
                            Abnormality of the proximal phalanges of the hand(HPO:0009834)
                               Aplasia/Hypoplasia of the proximal phalanges of the hand(HPO:0009851)
                                  Aplasia of the proximal phalanges of the hand(HPO:0010242)
                            Aplasia/Hypoplasia of the phalanges of the hand(HPO:0009767)
                               Aplasia of the phalanges of the hand(HPO:0009802)
                                  Aplasia of the proximal phalanges of the hand(HPO:0010242)
                               Aplasia/Hypoplasia of the proximal phalanges of the hand(HPO:0009851)
                                  Aplasia of the proximal phalanges of the hand(HPO:0010242)
                         Aplasia/Hypoplasia of fingers(HPO:0006265)
                            Aplasia of the fingers(HPO:0009380)
                               Aplasia of the proximal phalanges of the hand(HPO:0010242)
                   Aplasia/hypoplasia of the extremities(HPO:0009815)
                      Aplasia/hypoplasia involving bones of the upper limbs(HPO:0006496)
                         Aplasia/hypoplasia involving bones of the hand(HPO:0005927)
                            Aplasia/Hypoplasia of fingers(HPO:0006265)
                               Aplasia of the fingers(HPO:0009380)
                                  Aplasia of the proximal phalanges of the hand(HPO:0010242)
MedDRA:
Database Frequency: 1 / 7739
Resource:

All diseases associated with this symptom:

CHONDRODYSPLASIA, ACROMESOMELIC, WITH GENITAL ANOMALIES (OMIM:609441)